Search Results - Françoise Charbonnier
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A rapid PCR fidelity assay by Jean‐Michel Flaman, Thierry Frébourg, Viviane Moreau, Françoise Charbonnier, Cosette Martin, Chikashi Ishioka, Stephen Friend, Richard Iggo
Published 1994Artigo -
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A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects by Isabelle Tournier, Myriam Vézain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert‐Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg, Mario Tosi
Published 2008Artigo -
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Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples by Kévin Cassinari, Élodie Alessandri-Gradt, Pascal Chambon, Françoise Charbonnier, Ségolène Gracias, Ludivine Beaussire, Kévin Alexandre, Nasrin Sarafan‐Vasseur, Claude Houdayer, Manuel Etienne, François Caron, Jean‐Christophe Plantier, Thierry Frébourg
Published 2020Artigo -
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Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum by Dominique Campion, Cécile Dumanchin, Didier Hannequin, Bruno Dubois, Serge Belliard, Michèle Puel, Catherine Thomas-Antérion, Agnès Michon, Cosette Martin, Françoise Charbonnier, Grégory Raux, Agnès Camuzat, Christiane Penet, Valérie Mesnage, María Martínez, Françoise Clerget‐Darpoux, Alexis Brice, Thierry Frébourg
Published 1999Artigo -
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CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations by Alexis Guernet, Sathish Kumar Mungamuri, Dorthe Cartier, Ravi Sachidanandam, Anitha D. Jayaprakash, Sahil Adriouch, Myriam Vézain, Françoise Charbonnier, Guy Rohkin, Sophie Coutant, Shen Yao, Hassan Ainani, David Alexandre, Isabelle Tournier, Olivier Boyer, Stuart A. Aaronson, Youssef Anouar, Luca Grumolato
Published 2016Artigo
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Biology
Genetics
Gene
Internal medicine
Medicine
Computational biology
Disease
Mutation
Age of onset
Alternative splicing
Alzheimer's disease
Bioinformatics
Brain tumor
CRISPR
Cas9
Context (archaeology)
Coronavirus disease 2019 (COVID-19)
DNA barcoding
DNA mismatch repair
DNA repair
Digital polymerase chain reaction
Early-onset Alzheimer's disease
Environmental health
Evolutionary biology
Exon
Exon skipping
Exonic splicing enhancer
Genome
Immunology
Infectious disease (medical specialty)